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. 2011 Feb 19;17:548–557.

Table 2. Primers sequences and the physical position used in real-time quantitative PCR and the results of MLPA and real-time PCR.

 
 
 
Family 85
Family 86
Gene/SNP Physical position Primer sequences (5′-3′) MLPA RQ result* MLPA RQ result*
rs11031332
31235538
Fwd: CATTAGATTCATGTGGCTTGTTG
 


1.17
 
 
Rev: AATCCGATTCCTCGATTTGT
 
 
 
 
rs1929020
31237204
Fwd: TGACTGGTGCTACTGCCAAC
 
 
 
0.49
 
 
Rev: CTCCCGAATAGCGTGGATTA
 
 
 
 
DCDC1
31240747–31347897
 
-
 
+
 
ELP4
31487873–31761905
 
-
 
+
 
rs35674517
31763272–31763273
Fwd: TTCTTCCCCATTTTCTTTTCAA
 
1.18
 
 
 
 
Rev: TTCAGAATGTTCATAATGCTTTCAA
 
 
 
 
rs608293
31764856
Fwd: GAATATTTTTCCCCCAAAGC
 
0.44
 
1.07
 
 
Rev: TGAGAGGCCCAGAGTAAAAAGA
 
 
 
 
PAX6
31762916–31796085
 
+
 
-
 
DKFZp686K1684
31794690–31865163
 
+
 
-
 
RCN1
32074656–32083376
 
+
 
-
 
SHGC-143238
32102437–32102880
Fwd: TCCTCCCCTTGAGTCACTTACAT
 
0.5
 
 
 
 
Rev: TTACTTGCCAAAACACACTCCCT
 
 
 
 
rs7104670
32155485
Fwd: GTTACCACATTCGCAAAGCA
 
0.46
 
 
 
 
Rev: CAGACAAACACATTGACAGTCCT
 
 
 
 
rs12577592
32165037
Fwd: CCTTGCTCCTTTCAGTCCAG
 
0.35
 
 
 
 
Rev: ACCCTGAGTGTGTGTCATGC
 
 
 
 
rs4244480
32172819
Fwd: ACTTATCCCGCCCTTGTGTT
 
0.41
 
 
 
 
Rev: CACCAGGTTGTTTTGGGACT
 
 
 
 
rs72320219
32173790–32173791
Fwd: AGGAAAATCGCTTGAACCTG
 
1.08
 
 
 
 
Rev: GGGGTGGTTGTGAGGACTAA
 
 
 
 
GAPDH
6516714–6517797
Fwd: ACCCAGAAGACTGTGGATGG
 
 
 
 
    Rev: TTCTAGACGGCAGGTCAGGT        

Abbreviations: MLPA, Multiplex ligation-dependent probe amplification; RQ, relative quantity; +, deletion ; -, no deletion; *mean value of three times; Fwd, forward; Rev, reverse.